Pier Franco Pignatti

Pier Franco Pignatti

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Pier Franco Pignatti

Pier Franco Pignatti

Publications by authors named "Pier Franco Pignatti"

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Involving the European National Human Genetics Societies.

Eur J Hum Genet 2017 12;25(s2):S39-S42

Universidad de Zaragoza, Dpto. Pediatria, Fac. Medicina, c/ Domingo Miral s/n, 50009 Zaragoza, Spain.

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http://dx.doi.org/10.1038/ejhg.2017.152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763260PMC
December 2017

DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis.

J Allergy Clin Immunol 2016 09 30;138(3):748-753. Epub 2016 Mar 30.

INSERM, UMR946, Genetic Variation and Human Diseases Unit, Paris, France; Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.12.1341DOI Listing
September 2016

Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs.

Mol Cell Probes 2014 Oct-Dec;28(5-6):242-5. Epub 2014 Jun 3.

Department of Life and Reproduction Sciences, University of Verona, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08908508140003
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http://dx.doi.org/10.1016/j.mcp.2014.05.001DOI Listing
July 2015

Imputation reliability on DNA biallelic markers for drug metabolism studies.

BMC Bioinformatics 2012 7;13 Suppl 14:S7. Epub 2012 Sep 7.

Dep, of Life and Reproductions Sciences, Sec, of Biology and Genetics - University of Verona, strada Le grazie 8, 37134 Verona, Italy.

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http://dx.doi.org/10.1186/1471-2105-13-S14-S7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439717PMC
May 2013

A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype.

Diabetes Res Clin Pract 2011 Apr 1;92(1):e23-6. Epub 2011 Feb 1.

Regional Center for Pediatric Diabetes, ULSS 20 & University of Verona, Department of Life and Reproduction Sciences, Section of Pediatrics, Verona, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S016882271100015
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http://dx.doi.org/10.1016/j.diabres.2011.01.014DOI Listing
April 2011

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.

Authors:
Themistocles L Assimes Hilma Hólm Sekar Kathiresan Muredach P Reilly Gudmar Thorleifsson Benjamin F Voight Jeanette Erdmann Christina Willenborg Dhananjay Vaidya Changchun Xie Chris C Patterson Thomas M Morgan Mary Susan Burnett Mingyao Li Mark A Hlatky Joshua W Knowles John R Thompson Devin Absher Carlos Iribarren Alan Go Stephen P Fortmann Stephen Sidney Neil Risch Hua Tang Richard M Myers Klaus Berger Monika Stoll Svati H Shah Gudmundur Thorgeirsson Karl Andersen Aki S Havulinna J Enrique Herrera Nauder Faraday Yoonhee Kim Brian G Kral Rasika A Mathias Ingo Ruczinski Bhoom Suktitipat Alexander F Wilson Lisa R Yanek Lewis C Becker Patrick Linsel-Nitschke Wolfgang Lieb Inke R König Christian Hengstenberg Marcus Fischer Klaus Stark Wibke Reinhard Janina Winogradow Martina Grassl Anika Grosshennig Michael Preuss Stefan Schreiber H-Erich Wichmann Christa Meisinger Jean Yee Yechiel Friedlander Ron Do James B Meigs Gordon Williams David M Nathan Calum A MacRae Liming Qu Robert L Wilensky William H Matthai Atif N Qasim Hakon Hakonarson Augusto D Pichard Kenneth M Kent Lowell Satler Joseph M Lindsay Ron Waksman Christopher W Knouff Dawn M Waterworth Max C Walker Vincent E Mooser Jaume Marrugat Gavin Lucas Isaac Subirana Joan Sala Rafael Ramos Nicola Martinelli Oliviero Olivieri Elisabetta Trabetti Giovanni Malerba Pier Franco Pignatti Candace Guiducci Daniel Mirel Melissa Parkin Joel N Hirschhorn Rosanna Asselta Stefano Duga Kiran Musunuru Mark J Daly Shaun Purcell Sandra Eifert Peter S Braund Benjamin J Wright Anthony J Balmforth Stephen G Ball Willem H Ouwehand Panos Deloukas Michael Scholz Francois Cambien Andreas Huge Thomas Scheffold Veikko Salomaa Domenico Girelli Christopher B Granger Leena Peltonen Pascal P McKeown David Altshuler Olle Melander Joseph M Devaney Stephen E Epstein Daniel J Rader Roberto Elosua James C Engert Sonia S Anand Alistair S Hall Andreas Ziegler Christopher J O'Donnell John A Spertus David Siscovick Stephen M Schwartz Diane Becker Unnur Thorsteinsdottir Kari Stefansson Heribert Schunkert Nilesh J Samani Thomas Quertermous

J Am Coll Cardiol 2010 Nov;56(19):1552-63

Department of Medicine, Stanford University School of Medicine, Stanford, California 94304-1334, USA.

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http://dx.doi.org/10.1016/j.jacc.2010.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084526PMC
November 2010

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.

Authors:
Solveig Gretarsdottir Annette F Baas Gudmar Thorleifsson Hilma Holm Martin den Heijer Jean-Paul P M de Vries Steef E Kranendonk Clark J A M Zeebregts Steven M van Sterkenburg Robert H Geelkerken Andre M van Rij Michael J A Williams Albert P M Boll Jelena P Kostic Adalbjorg Jonasdottir Aslaug Jonasdottir G Bragi Walters Gisli Masson Patrick Sulem Jona Saemundsdottir Magali Mouy Kristinn P Magnusson Gerard Tromp James R Elmore Natzi Sakalihasan Raymond Limet Jean-Olivier Defraigne Robert E Ferrell Antti Ronkainen Ynte M Ruigrok Cisca Wijmenga Diederick E Grobbee Svati H Shah Christopher B Granger Arshed A Quyyumi Viola Vaccarino Riyaz S Patel A Maziar Zafari Allan I Levey Harland Austin Domenico Girelli Pier Franco Pignatti Oliviero Olivieri Nicola Martinelli Giovanni Malerba Elisabetta Trabetti Lewis C Becker Diane M Becker Muredach P Reilly Daniel J Rader Thomas Mueller Benjamin Dieplinger Meinhard Haltmayer Sigitas Urbonavicius Bengt Lindblad Anders Gottsäter Eleonora Gaetani Roberto Pola Philip Wells Marc Rodger Melissa Forgie Nicole Langlois Javier Corral Vicente Vicente Jordi Fontcuberta Francisco España Niels Grarup Torben Jørgensen Daniel R Witte Torben Hansen Oluf Pedersen Katja K Aben Jacqueline de Graaf Suzanne Holewijn Lasse Folkersen Anders Franco-Cereceda Per Eriksson David A Collier Hreinn Stefansson Valgerdur Steinthorsdottir Thorunn Rafnar Einar M Valdimarsson Hulda B Magnadottir Sigurlaug Sveinbjornsdottir Isleifur Olafsson Magnus Karl Magnusson Robert Palmason Vilhelmina Haraldsdottir Karl Andersen Pall T Onundarson Gudmundur Thorgeirsson Lambertus A Kiemeney Janet T Powell David J Carey Helena Kuivaniemi Jes S Lindholt Gregory T Jones Augustine Kong Jan D Blankensteijn Stefan E Matthiasson Unnur Thorsteinsdottir Kari Stefansson

Nat Genet 2010 Aug 11;42(8):692-7. Epub 2010 Jul 11.

Population Genomics, deCODE Genetics, Reykjavik, Iceland.

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http://dx.doi.org/10.1038/ng.622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157066PMC
August 2010

Detection of a large deletion in the P-selectin (SELP) gene.

Mol Cell Probes 2010 Jun 4;24(3):161-5. Epub 2009 Dec 4.

Department of Mother and Child, and Biology-Genetics, University of Verona, Strada le Grazie 8, Verona, Italy.

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http://dx.doi.org/10.1016/j.mcp.2009.11.006DOI Listing
June 2010

Fully non-homogeneous hidden Markov model double net: a generative model for haplotype reconstruction and block discovery.

Artif Intell Med 2009 Feb-Mar;45(2-3):135-50. Epub 2008 Oct 23.

Department of Computer Science, University of Verona, Strada le Grazie 15, 37134 Verona, Italy.

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http://dx.doi.org/10.1016/j.artmed.2008.08.015DOI Listing
May 2009

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.

Nat Genet 2009 Mar 8;41(3):342-7. Epub 2009 Feb 8.

deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland.

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http://dx.doi.org/10.1038/ng.323DOI Listing
March 2009

Genetic testing for adult-type hypolactasia in Italian families.

Clin Chem Lab Med 2008 ;46(7):980-4

Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1515/CCLM.2008.189DOI Listing
October 2008

ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study.

Eur J Hum Genet 2007 Sep 16;15(9):959-66. Epub 2007 May 16.

Department of Clinical and Experimental Medicine, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201854DOI Listing
September 2007

Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease.

BMC Med Genet 2007 Sep 5;8:59. Epub 2007 Sep 5.

Department of Mother and Child and of Biology-Genetics, Section of Biology and Genetics, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1186/1471-2350-8-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2048504PMC
September 2007

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.

Clin Chem Lab Med 2007 ;45(2):254-60

Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1515/CCLM.2007.053DOI Listing
April 2007

Expression of receptor for advanced glycation end products in sarcoid granulomas.

Am J Respir Crit Care Med 2007 Mar 14;175(5):498-506. Epub 2006 Dec 14.

Laboratorio di Biochimica & Genetica, Clinica Malattie Apparto Respiratorio, IRCSS Policlinico San Matteo, Università di Pavia, Via Taramelli 5, 27100 Pavia, Italy.

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http://dx.doi.org/10.1164/rccm.200601-136OCDOI Listing
March 2007

On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease.

Eur J Hum Genet 2006 Jan;14(1):127-30

Department of Mother and Child and of Biology-Genetics, Section of Biology and Genetics, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201513DOI Listing
January 2006

Frequency of large CFTR gene rearrangements in Italian CF patients.

Eur J Hum Genet 2005 May;13(5):687-9

Section of Biology and Genetics, University of Verona, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201387DOI Listing
May 2005

The MTHFR 1298A>C polymorphism and genomic DNA methylation in human lymphocytes.

Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):938-43

Department of Clinical and Experimental Medicine, University of Verona, Policlinico Giambattista Rossi, Piazza Ludovico Antonio Scuro, 10, 37134 Verona, Italy.

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http://dx.doi.org/10.1158/1055-9965.EPI-04-0601DOI Listing
April 2005

Molecular biomedicine and the unraveling of complex phenotypes.

J Appl Genet 2004 ;45(4):395-7

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February 2005

Association of the interleukin-1 receptor antagonist gene with asthma.

Am J Respir Crit Care Med 2004 Jun 12;169(11):1217-23. Epub 2004 Mar 12.

GSF-National Research Center for Environment and Health, Institute of Epidemiology, Neuherberg, Germany.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200302-281OC
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http://dx.doi.org/10.1164/rccm.200302-281OCDOI Listing
June 2004

Trends in pharmacogenomics of drugs used in the treatment of asthma.

Pharmacol Res 2004 Apr;49(4):343-9

Section of Biology and Genetics, Department of Mother and Child, Biology and Genetics, University of Verona, Strada Le Grazie 8, 37134 Verona, Italy.

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April 2004

Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease.

J Lipid Res 2003 Dec 16;44(12):2374-81. Epub 2003 Oct 16.

Unit of Internal Medicine, Department of Clinical and Experimental Medicine, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1194/jlr.M300253-JLR200DOI Listing
December 2003

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

Eur J Hum Genet 2003 Jul;11(7):543-6

Section of Biology and Genetics, Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5200989DOI Listing
July 2003

The interaction between MTHFR 677 C-->T genotype and folate status is a determinant of coronary atherosclerosis risk.

J Nutr 2003 May;133(5):1281-5

Department of Clinical and Experimental Medicine, Institute of Biology and Genetics, University of Verona, Policlinico G.B. Rossi, 37134 Verona, Italy.

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http://dx.doi.org/10.1093/jn/133.5.1281DOI Listing
May 2003

Genetics of idiopathic disseminated bronchiectasis.

Semin Respir Crit Care Med 2003 Apr;24(2):179-84

Clinica di Malattie dell'Apparato Respiratorio, Laboratorio di Biochimica e Genetica, IRCCS Policlinico San Matteo, Università di Pavia, Pavia, Italy.

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http://dx.doi.org/10.1055/s-2003-39028DOI Listing
April 2003

ApoC-III gene polymorphisms and risk of coronary artery disease.

J Lipid Res 2002 Sep;43(9):1450-7

Unit of Internal Medicine, Institute of Clinical Chemistry, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1194/jlr.m200145-jlr200DOI Listing
September 2002

Different impact of deletion polymorphism of gene on the risk of renal and coronary artery disease.

J Hypertens 2002 Jan;20(1):37-43

Department of Clinical and Experimental Medicine, Chair of Internal Medicine, University of Verona, Policlinico Borgo Roma, 37134 Verona, Italy.

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http://dx.doi.org/10.1097/00004872-200201000-00007DOI Listing
January 2002